Canonical Allele Identifier: CA351809499

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30732922T>A (hg19) ; chr3:g.30691430T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691430T>A , CM000665.2:g.30691430T>A	GRCh38
NC_000003.11:g.30732922T>A , CM000665.1:g.30732922T>A	GRCh37
NC_000003.10:g.30707926T>A	NCBI36
NG_007490.1:g.89929T>A , LRG_779:g.89929T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1535T>A MANE Select	ENSP00000295754.5:p.Met512Lys
ENST00000672050.1:n.419T>A
ENST00000672866.1:n.3131T>A
ENST00000673203.1:n.413T>A
ENST00000295754.9:c.1535T>A	ENSP00000295754.5:p.Met512Lys
ENST00000359013.4:c.1610T>A	ENSP00000351905.4:p.Met537Lys
NM_001024847.2:c.1610T>A , LRG_779t1:c.1610T>A	NP_001020018.1:p.Met537Lys
NM_003242.5:c.1535T>A	NP_003233.4:p.Met512Lys
XM_011534043.1:c.1562T>A	XP_011532345.1:p.Met521Lys
XM_011534044.1:c.1487T>A	XP_011532346.1:p.Met496Lys
XM_011534045.1:c.1430T>A	XP_011532347.1:p.Met477Lys
XM_011534043.2:c.1562T>A	XP_011532345.1:p.Met521Lys
XM_011534045.3:c.1430T>A	XP_011532347.1:p.Met477Lys
XM_017007106.1:c.1430T>A	XP_016862595.1:p.Met477Lys
NM_003242.6:c.1535T>A MANE Select	NP_003233.4:p.Met512Lys